ATP6V0A2

2LX42354521871ENSG00000185344ENSMUSG00000038023Q9Y487P15920NM_012463NM_011596NP_036595NP_035726V-type proton ATPase 116 kDa subunit a isoform 2, also known as V-ATPase 116 kDa isoform a2, is an enzyme that in humans is encoded by the ATP6V0A2 gene.

[5][6][7] V-ATPase 116 kDa isoform a2 is a subunit of the vacuolar ATPase (v-ATPase), an heteromultimeric enzyme that is present in intracellular vesicles and in the plasma membrane of specialized cells, and which is essential for the acidification of diverse cellular components.

V-ATPase consists of a membrane peripheral V(1) domain for ATP hydrolysis, and an integral membrane V(0) domain for proton translocation.

[7] Mutations in this gene are a cause of both cutis laxa type II and wrinkly skin syndrome.

[7] This article incorporates text from the United States National Library of Medicine, which is in the public domain.